Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912741
rs121912741
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. 16227998 2005
dbSNP: rs121912741
rs121912741
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Band 3Tambaú: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane. 15813913 2005
dbSNP: rs121912749
rs121912749
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. 16227998 2005
dbSNP: rs121912749
rs121912749
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Band 3Tambaú: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane. 15813913 2005
dbSNP: rs121912750
rs121912750
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. 16227998 2005
dbSNP: rs121912750
rs121912750
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Band 3Tambaú: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane. 15813913 2005
dbSNP: rs121912755
rs121912755
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Band 3Tambaú: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane. 15813913 2005
dbSNP: rs121912755
rs121912755
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. 16227998 2005
dbSNP: rs28931583
rs28931583
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Band 3Tambaú: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane. 15813913 2005
dbSNP: rs28931583
rs28931583
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. 16227998 2005
dbSNP: rs28931584
rs28931584
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Band 3Tambaú: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane. 15813913 2005
dbSNP: rs28931584
rs28931584
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. 16227998 2005
dbSNP: rs28931585
rs28931585
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. 16227998 2005
dbSNP: rs28931585
rs28931585
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Band 3Tambaú: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane. 15813913 2005
dbSNP: rs121912741
rs121912741
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III. 11380459 2001
dbSNP: rs121912749
rs121912749
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III. 11380459 2001
dbSNP: rs121912750
rs121912750
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III. 11380459 2001
dbSNP: rs121912755
rs121912755
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III. 11380459 2001
dbSNP: rs28931583
rs28931583
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III. 11380459 2001
dbSNP: rs28931584
rs28931584
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III. 11380459 2001
dbSNP: rs28931585
rs28931585
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III. 11380459 2001
dbSNP: rs121912741
rs121912741
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. 10745622 2000
dbSNP: rs121912741
rs121912741
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. 10942416 2000
dbSNP: rs121912749
rs121912749
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. 10942416 2000
dbSNP: rs121912749
rs121912749
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
CUI: C2675212
Disease:
Spherocytosis, Type 4
0.800 GeneticVariation UNIPROT Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. 10745622 2000